title: Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.
abstract: Two homologous genes, EXT1 and EXT2, responsible for the development of benign multiple cartilagenous bone tumors (exostoses) on the long bones, have been identified in the past 2 years. Several arguments have been provided to support the hypothesis that these genes have tumor suppressor activity and that loss of function of these genes may contribute to the development of bone tumors. The recent identification of two EXT-like genes, EXTL1 and EXTL2, homologous to the EXT genes and to each other, revealed the existence of a larger family of genes. We now report the identification of a homologous EST (EST01365), not derived from the known EXT and EXTL genes, indicating the existence of one additional member of this gene family. We characterized this third EXT-like gene, EXTL3, and compared it with the other four members of the EXT-EXTL family. In view of its putative tumor suppressor function, the EXTL3 gene can be considered a candidate gene for the breast cancer locus on chromosome 8p12-p22.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Belgium. vhul@uia.ua.ac.be
authors.forename: W
authors.initials: W
authors.lastname: Van Hul
authors.forename: W
authors.initials: W
authors.lastname: Wuyts
authors.forename: J
authors.initials: J
authors.lastname: Hendrickx
authors.forename: F
authors.initials: F
authors.lastname: Speleman
authors.forename: J
authors.initials: J
authors.lastname: Wauters
authors.forename: K
authors.initials: K
authors.lastname: De Boulle
authors.forename: N
authors.initials: N
authors.lastname: Van Roy
authors.forename: P
authors.initials: P
authors.lastname: Bossuyt
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D015152:Blotting, Northern; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003001:Cloning, Molecular; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases; D011506:Proteins / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification*; D017386:Sequence Homology, Amino Acid; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: C110774:EXTL3 protein, human; D011506:Proteins; D017351:N-Acetylglucosaminyltransferases; D000099058:Exostosin 1; D000099065:Exostosin 2